|
Abnormal behavior
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
The cross-talk between glutamate N-methyl-D-aspartate acid receptors and dopamine receptors is associated with histidine triad nucleotide binding protein 1 (HINT1), which is correlated with diverse psychiatric disorders.
|
28410269 |
2017 |
|
Acquired Neuromyotonia
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Acute-On-Chronic Liver Failure
|
0.010 |
Biomarker
|
disease |
BEFREE |
HINT: a novel prognostic model for patients with hepatitis B virus-related acute-on-chronic liver failure.
|
30069888 |
2018 |
|
Agenesis of corpus callosum
|
0.010 |
Biomarker
|
disease |
BEFREE |
Besides, we screened for all the known genes related to axonal autosomal recessive Charcot-Marie-Tooth disease (CMT2A2/HMSN2A2/MFN2, CMT2B1/LMNA, CMT2B2/MED25, CMT2B5/NEFL, ARCMT2F/dHMN2B/HSPB1, CMT2K/GDAP1, CMT2P/LRSAM1, CMT2R/TRIM2, CMT2S/IGHMBP2, CMT2T/HSJ1, CMTRID/COX6A1, ARAN-NM/HINT and GAN/GAN), for the genes related to autosomal recessive hereditary spastic paraplegia with thin corpus callosum and axonal peripheral neuropathy (SPG7/PGN, SPG15/ZFYVE26, SPG21/ACP33, SPG35/FA2H, SPG46/GBA2, SPG55/C12orf65 and SPG56/CYP2U1), as well as for the causative gene of peripheral neuropathy with or without agenesis of the corpus callosum (SLC12A6).
|
26556829 |
2016 |
|
Axonal neuropathy
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
HINT1 mutations cause an autosomal recessive distal hereditary motor axonal neuropathy with neuromyotonia.
|
26182879 |
2015 |
|
Axonal neuropathy
|
0.060 |
Biomarker
|
disease |
BEFREE |
Axonal neuropathy with neuromyotonia: there is a HINT.
|
28007994 |
2017 |
|
Axonal neuropathy
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
However, in 2/12 patients a recessive mutation in histidine triad nucleotide binding protein 1 (HINT1, recently discovered as a cause of axonal neuropathy with neuromyotonia) was identified.
|
24105373 |
2014 |
|
Axonal neuropathy
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
Biallelic mutations in the HINT1 gene were recently identified as the cause of axonal neuropathy with neuromyotonia.
|
26194197 |
2015 |
|
Axonal neuropathy
|
0.060 |
Biomarker
|
disease |
BEFREE |
Taken together, our results suggest that the pathophysiology of inherited axonal neuropathy with neuromyotonia can be induced by conversion of HINT1 from a homodimer to monomer, by modification of select surface residues or by a significant reduction of the enzyme's catalytic efficiency.
|
29787766 |
2018 |
|
Axonal neuropathy
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.
|
22961002 |
2012 |
|
Bipolar Disorder
|
0.300 |
Biomarker
|
disease |
PSYGENET |
Postmortem studies identified PKCI/HINT1 as a candidate molecule for schizophrenia and bipolar disorder.
|
19912621 |
2009 |
|
Blood Protein Measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genomic atlas of the human plasma proteome.
|
29875488 |
2018 |
|
Carcinogenesis
|
0.010 |
AlteredExpression
|
phenotype |
BEFREE |
These results suggested that Hint1 expression was lower in GC tissues and some etiological factors, such as H. pylori/EB infection or promoter hypermethylation may play a role in gastric tumorigenesis.
|
21468541 |
2011 |
|
Charcot-Marie-Tooth Disease
|
0.120 |
GeneticVariation
|
disease |
BEFREE |
We aimed to establish the importance of HINT1 mutations as the cause of hereditary neuropathy and particularly hereditary motor neuropathy/axonal Charcot-Marie-Tooth (HMN/CMT2) among Czech patients.
|
25342199 |
2015 |
|
Charcot-Marie-Tooth Disease
|
0.120 |
Biomarker
|
disease |
BEFREE |
We provide a comprehensive overview of the structural and functional characteristics of the HINT1 protein that may guide further studies into the molecular aetiology and treatment strategies of this peculiar Charcot-Marie-Tooth subtype.
|
28007994 |
2017 |
|
Charcot-Marie-Tooth Disease
|
0.120 |
Biomarker
|
disease |
HPO |
|
|
|
|
Claw hand
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
CNS disorder
|
0.010 |
Biomarker
|
group |
BEFREE |
Histidine Triad Nucleotide Binding Protein 1 (Hint1) has emerged to be an important post-synaptic protein associated with a variety of central nervous system disorders such as pain, addiction, and schizophrenia.
|
29177353 |
2017 |
|
Colorectal Carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
HIT family genes: FHIT but not PKCI-1/HINT produces altered transcripts in colorectal cancer.
|
10555761 |
1999 |
|
Congenital deafness
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Centers with a higher annual implant volume more frequently performed off-label implantation in all queried populations (all, p≤0.001), and performed surgery on infants with congenital deafness at a younger age (p = 0.013), compared with centers with lower surgical volume.When surveyed regarding speech perception testing practices for adult candidacy assessment, 75 (100%) respondents who answered this question reported routine use of AzBio sentences, 42 (56%) CNC word scores, and 26 (35%) HINT testing; only 7 (9%) reported using BKB-SIN testing and 6 (8%) reported using CUNY scores.
|
29210952 |
2018 |
|
Contracture of tendo achilles
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Creatine phosphokinase serum increased
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Depressed mood
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
Thus, an altered endocannabinoid system may contribute to the pathophysiology of schizophrenia and depression by modifying the HINT1-NR1 C1/GPCR ratio, thereby altering GPCR-NMDAR cross-regulation.
|
29249810 |
2017 |
|
Depressive disorder
|
0.010 |
Biomarker
|
disease |
BEFREE |
Thus, an altered endocannabinoid system may contribute to the pathophysiology of schizophrenia and depression by modifying the HINT1-NR1 C1/GPCR ratio, thereby altering GPCR-NMDAR cross-regulation.
|
29249810 |
2017 |
|
Distal lower limb amyotrophy
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|